作者: Akihiko Gemma , William P. Bennett , Curtis C. Harris , Makoto Nagashima , Koichi Hagiwara
DOI:
关键词: FHIT 、 Genetics 、 Missense mutation 、 Molecular biology 、 Primary tumor 、 Carcinogenesis 、 Point mutation 、 Intron 、 Exon 、 Biology 、 Chromosome 3
摘要: Allelic deletion of multiple regions on the short arm chromosome 3 (3p) implies presence important tumor suppressor genes in human carcinogenesis. The FHIT gene, identified recently 3p14.2, shows frequent allelic and aberrant transcripts gastrointestinal tumors. After determining intron sequences flanking each coding exons gene designing primers to facilitate mutation analysis genomic DNA samples, we analyzed complete matched cancer normal tissues from 40 cases with primary gastric using primers, PCR-single-strand conformation polymorphism analysis, direct sequencing. A somatic missense exon 6, codon 61, ACG (threonine) --> ATG (methionine) was found a signet ring cell adenocarcinoma. We also evaluated these tumors by PCR-based microsatellite analysis; occurred 42.1% (16 38) evaluable cases. This is first report tumor. Presence point deletions are consistent hypothesis that alterations involved development cancers.